Multimodal genetic diagnosis of solid variant alveolar rhabdomyosarcoma

• Type: Article in International Scientific Journal
• Date: 2005

Authors

cerveira, n (Author) Other; Torres, L (Author) Other; Ribeiro, FR (Author) Other; henrique, rmf (Author) ICBAS; Pinto, A (Author) Other; Bizarro, S (Author) Other; Ferreira, AM (Author) Other; Lopes, C (Author) ICBAS; Manuel R Teixeira (Author) ICBAS

Journal

Title: Cancer Genetics and Cytogenetics

Vol. 163

Pages: 138-143

ISSN: 0165-4608

Publisher: Elsevier B.V.

Indexing

ISI Web of Knowledge - 11 Citations

Scopus - 12 Citations

Other information

Authenticus ID: P-000-04Y

DOI: 10.1016/j.cancergencyto.2005.06.020

Abstract (EN): The most common types of rhabdomyosarcoma (RMS) are alveolar RMS (ARMS), which are characterized by the specific translocation t(2;13)(q35;q14) or its rarer variant, t(l;13)(p36;q14), producing the fusion genes PAX3-FKHR and PAX7-FKHR, respectively, and embryonal RMS (ERMS), which is characterized by multiple numeric chromosome changes. A solid variant of ARMS that is morphologically indistinguishable from ERMS has been described recently. We present two cases with an initial histopathologic diagnosis of ERMS in which the combined findings by cytogenetic, reverse-transcriptase polymerase chain reaction (RT-PCR), and comparative genomic hybridization (CGH) analyses demonstrate that both tumors were in fact the solid variant of ARMS. The cytogenetic analysis of patient 1 revealed a t(2;13)(q35;q14) and the RT-PCR study detected the corresponding PAX3-FKHR chimeric transcript. In patient 2, the cytogenetic finding of multiple trisomies was compatible with the initial histopathologic diagnosis of ERMS, but the finding of a PAX7-FKHR fusion transcript by RT-PCR pointed to the diagnosis of ARMS. Interestingly, the CGH findings of this case reconciled the molecular and cytogenetic data by detecting, in addition to the trisomies, amplification of chromosomal bands 1p36 and 13q14, where the PAX7 and FKHR genes are located, respectively. Our data indicate that this multimodal genetic analysis could be important for the differential diagnosis of these tumors. Furthermore, our findings and previous studies indicate that there are no apparent genetic differences between solid variant and typical ARMS.

Language: English

Type (Professor's evaluation): Scientific

No. of pages: 6